Spondyloepimetaphyseal dysplasia Shohat type

Alternate names

SEMD Shohat type

Definition

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

Epidemiology

The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.

Cause

The causative gene has not yet been identified.

Inheritance

Autosomal recessive inheritance, a 25% chance

Autosomal recessive inheritance has been suggested.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormal epiphyseal ossification
• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Abnormality of the ribs(Rib abnormalities)
• Flat acetabular roof
• Genu varum(Outward bow-leggedness)
• Lumbar hyperlordosis(Excessive inward curvature of lower spine)
• Metaphyseal widening(Broad wide portion of long bone)
• Micromelia(Smaller or shorter than typical limbs)
• Platyspondyly(Flattened vertebrae)
• Severe short stature(Dwarfism)
• Short femur(Short thighbone)
• Short iliac bones(Short pelvis bones)
• Short neck(Decreased length of neck)
• Short thorax(Shorter than typical length between neck and abdomen)
• Spondyloepimetaphyseal dysplasia
• Thin vermilion border(Decreased volume of lip)

30%-79% of people have these symptoms

• Abdominal distention(Abdominal bloating)
• Depressed nasal bridge(Depressed bridge of nose)
• Gait disturbance(Abnormal gait)
• Hepatomegaly(Enlarged liver)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Round face(Circular face)
• Splenomegaly(Increased spleen size)

5%-29% of people have these symptoms

• Wormian bones(Extra bones within cranial sutures)

1%-4% of people have these symptoms

• Hoarse voice(Hoarseness)

NIH genetic and rare disease info

• NIH info on Spondyloepimetaphyseal dysplasia Shohat type

Spondyloepimetaphyseal dysplasia Shohat type is a rare disease.

Resources

Frequently asked questions

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